FACTOID # 11: Oklahoma has the highest rate of women in State or Federal correctional facilities.
 
 Home   Encyclopedia   Statistics   States A-Z   Flags   Maps   FAQ   About 
   
 
WHAT'S NEW
RELATED ARTICLES
People who viewed "Phenylketonuria" also viewed:
 

SEARCH ALL

FACTS & STATISTICS    Advanced view

Search encyclopedia, statistics and forums:

 

 

(* = Graphable)

 

 


Encyclopedia > Phenylketonuria
Phenylketonuria
Classification and external resources
Phenylalanine
ICD-10 E70.0
ICD-9 270.1
OMIM 261600 261630
DiseasesDB 9987
MedlinePlus 001166
eMedicine ped/1787  derm/712
MeSH D010661

Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. PKU is found on chromosome number 12. Phenyl alanine is an α-amino acid with the formula HO2CCH(NH2)CH2C6H5. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... A genetic disorder is a condition caused by abnormalities in genes or chromosomes. ... Categories: Biochemistry stubs | EC 1. ... Phenyl alanine is an α-amino acid with the formula HO2CCH(NH2)CH2C6H5. ... Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in 1846 by German chemist Justus von Liebig in the protein casein from cheese[1][2]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells... This article is about the urine of animals generally. ...


Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. Damage done is irreversible so early detection is crucial. Half-wit redirects here. ... This article is about the medical condition. ...

Contents

History

Phenylketonuria was discovered by the Norwegian physician Asbjørn Følling in 1934[1] when he noticed that hyperphenylalaninemia (HPA) was associated with mental retardation. In Norway, this disorder is known as Følling's disease, named after its discoverer.[2] Dr. Følling was one of the first physicians to apply detailed chemical analysis to the study of disease. His careful analysis of the urine of two affected siblings led him to request many physicians near Oslo to test the urine of other affected patients. This led to the discovery of the same substance that he had found in eight other patients. The substance found was subjected to much more basic and rudimentary chemical analysis (taste). He conducted tests and found reactions that gave rise to benzaldehyde and benzoic acid, which led him to conclude the compound contained a benzene ring. Further testing showed the melting point to be the same as phenylpyruvic acid, which indicated that the substance was in the urine. His careful science inspired many to pursue similar meticulous and painstaking research with other disorders. The term Norwegians may refer to: People with a Norwegian ancestral or ethnic identity, whether living in Norway, emigrants, or the descendents of emigrants. ... Asbjorn Folling (1888-1973, No:Asbjørn Følling) was a Norwegian physician and biochemist who first described the disease named after him -- Follings disease -- which is better known outside of Norway as phenylketonuria or, for short, PKU. He was born in Kvam, Steinkjer. ... Year 1934 (MCMXXXIV) was a common year starting on Monday (link will display full 1934 calendar) of the Gregorian calendar. ... Benzaldehyde (C6H5CHO) is a chemical compound consisting of a benzene ring with an aldehyde substituent. ... Benzoic acid, C7H6O2 (or C6H5COOH), is a colorless crystalline solid and the simplest aromatic carboxylic acid. ... Benzene, or Benzol (see also Benzine), is an organic chemical compound and a known carcinogen with the molecular formula C6H6. ... The melting point of a solid is the temperature range at which it changes state from solid to liquid. ...


Screening and presentation

Blood is taken from a two-week old infant to test for phenylketonuria
Blood is taken from a two-week old infant to test for phenylketonuria

PKU is normally detected using the HPLC test, but some clinics still use the Guthrie test, part of national biochemical screening programs. Most babies in developed countries are screened for PKU soon after birth.[3] Chromatography is a family of analytical chemistry techniques for the separation of mixtures. ... The Guthrie test is a series of medical tests performed on newborns to detect several metabolic diseases. ...


If a child is not screened during the routine Newborn Screening test (typically performed at least 12 hours and generally 24-28 hours after birth), the disease may present clinically with seizures, albinism (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, one of the ketones produced). In most cases a repeat test should be done at approximately 2 weeks of age to verify the initial test and uncover any Phenylketonuria that was initially missed. This article is about epileptic seizures. ... Albino redirects here. ... Phenylacetic acid (abr. ...


Untreated children are normal at birth, but fail to attain early developmental milestones, develop microcephaly, and demonstrate progressive impairment of cerebral function. Hyperactivity, EEG abnormalities and seizures, and severe learning difficulties are major clinical problems later in life. A "musty" odor of skin, hair, sweat and urine (due to phenylacetate accumulation); and a tendency to hypopigmentation and eczema are also observed. Hyperactivity can be described as a state in which a person is abnormally easily excitable and exuberant. ... EEG redirects here. ... The term learning disability is used to refer to socio-biological conditions that affect a persons communicative capacities and potential to learn. ... Hypopigmentation is the loss of skin color. ... Eczema (from Greek έκζεμα) is a form of dermatitis, or inflammation of the upper layers of the skin. ...


In contrast, affected children who are detected and treated are less likely to develop neurological problems and have seizures and mental retardation, though such clinical disorders are still possible.


Pathophysiology

Classical PKU is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine to other essential compounds in the body. A rarer form of the disease occurs when PAH is normal but there is a defect in the biosynthesis or recycling of the cofactor tetrahydrobiopterin (BH4) by the patient.[4] This cofactor is necessary for proper activity of the enzyme. Other, non-PAH mutations can also cause PKU. Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... Categories: Biochemistry stubs | EC 1. ... A cofactor is any substance that needs to be present in addition to an enzyme to catalyze a certain reaction. ... Tetrahydrobiopterin Tetrahydrobiopterin or BH4 is a cofactor in the synthesis of nitric oxide. ...


The PAH gene is located on chromosome 12 in the bands 12q22-q24.1. More than four hundred disease-causing mutations have been found in the PAH gene. PAH deficiency causes a spectrum of disorders including classic phenylketonuria (PKU) and hyperphenylalaninemia (a less severe accumulation of phenylalanine).[5] Chromosome 12 is one of the 23 pairs of chromosomes in humans. ...


PKU is an autosomal recessive genetic disorder, meaning that each parent must have at least one defective allele of the gene for PAH, and the child must inherit two defective alleles, one from each parent. As a result, it is possible for a parent with PKU phenotype to have a child without PKU if the other parent possesses at least one functional allele of the PAH gene; but a child of two parents with PKU will always inherit two defective alleles, and therefore the disease. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... For a non-technical introduction to the topic, see Introduction to genetics. ... Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ...


Phenylketonuria can exist in mice, which have been extensively used in experiments into an effective treatment for PKU[6]. The macaque monkey's genome was recently sequenced, and it was found that the gene encoding phenylalanine hydroxylase has the same sequence which in humans would be considered the PKU mutation.[7] For other uses, see Macaca. ...


Metabolic pathways

The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this reaction does not take place, phenylalanine accumulates and tyrosine is deficient. Excessive phenylalanine can be metabolized into phenylketones through the minor route, a transaminase pathway with glutamate. Metabolites include phenylacetate, phenylpyruvate and phenylethylamine[8]. Detection of phenylketones in the urine is diagnostic. Categories: Biochemistry stubs | EC 1. ... This article is about the class of chemicals. ... Phenyl alanine is an α-amino acid with the formula HO2CCH(NH2)CH2C6H5. ... Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in 1846 by German chemist Justus von Liebig in the protein casein from cheese[1][2]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells... In biochemistry, a transaminase or an aminotransferase is an enzyme that catalyzes a type of reaction between an amino acid and an α-keto acid. ... Glutamate is the anion of glutamic acid. ... Phenylacetic acid (abr. ... Phenethylamine is an alkaloid and monoamine. ...


Phenylalanine is a large, neutral amino acid (LNAA). LNAAs compete for transport across the blood brain barrier (BBB) via the large neutral amino acid transporter (LNAAT). Excessive phenylalanine in the blood saturates the transporter. Thus, excessive levels of phenylalanine significantly decrease the levels of other LNAAs in the brain. But since these amino acids are required for protein and neurotransmitter synthesis, phenylalanine accumulation disrupts brain development in children, leading to mental retardation.[9] The blood-brain barrier is a physical barrier between the blood vessels in the central nervous system, and the central nervous system itself. ... CD98 is a glycoprotein[1][2] which comprises the light subunit of the Large neutral Amino acid Transporter (LAT1). ... For other uses, see Brain (disambiguation). ... Half-wit redirects here. ...


Treatment

If PKU is diagnosed early enough, an affected newborn can grow up with normal brain development, but only by eating a special diet low in phenylalanine for the rest of his or her life. This requires severely restricting or eliminating foods high in phenylalanine, such as breast milk, meat, chicken, fish, nuts, cheese, legumes and other dairy products. Starchy foods such as potatoes, bread, pasta, and corn must be monitored. Many diet foods and diet soft drinks that contain the sweetener aspartame must also be avoided, as aspartame consists of two amino acids: phenylalanine and aspartic acid. Phenyl alanine is an α-amino acid with the formula HO2CCH(NH2)CH2C6H5. ... Breast milk usually refers to the milk produced by a human female which is usually fed to infants, toddlers, and young children by breastfeeding. ... For other uses, see Meat (disambiguation). ... Roast Chicken Not including 32% bones. ... Fish served with vegetables and herbs. ... For other uses, see Nut (disambiguation). ... Cheese is a solid food made from the milk of cows, goats, sheep, and other mammals. ... Varieties of soybean seeds, a popular legume The term legume has two closely related meanings in botany, a situation encountered with many botanical common names of useful plants whereby an applied name can refer to either the plant itself, or to the edible fruit (or useful part). ... For other uses, see Potato (disambiguation). ... For other uses, see Bread (disambiguation). ... Percentages are relative to US recommendations for adults. ... This article is about the maize plant. ... Aspartame (or APM) (pronounced or ) is the name for an artificial, non-saccharide sweetener, aspartyl-phenylalanine-1-methyl ester; i. ...


Supplementary infant formulas are used in these patients to provide the amino acids and other necessary nutrients that would otherwise be lacking in a protein free diet. These can continue in other forms as the child grows up. (Since phenylalanine is necessary for the synthesis of many proteins, it is required but levels must be strictly controlled. In addition, tyrosine, which is normally derived from phenylalanine, must be supplemented.)


The oral administration of tetrahydrobiopterin (a cofactor in the oxidation of phenylalanine) can reduce blood levels of the amino acid in certain patients.[10][11] The company BioMarin Pharmaceutical has produced a tablet preparation of the compound (Kuvan), the first drug that can actually treat PKU, though concern has been expressed over its safety, cost, and the potential for PKU sufferers to override the benefits of the drug by increasing their intake of phenylalanine to dangerous levels.[12] Tetrahydrobiopterin Tetrahydrobiopterin or BH4 is a cofactor in the synthesis of nitric oxide. ... A cofactor is the following: In mathematics a cofactor is the minor of an element of a square matrix. ... ed|other uses|reduction}} Illustration of a redox reaction Redox (shorthand for reduction/oxidation reaction) describes all chemical reactions in which atoms have their oxidation number (oxidation state) changed. ... For other uses, see Blood (disambiguation). ... BioMarin Pharmaceutical (NASDAQ: BMRN) is a biotechnology firm based in Novato, California. ...


There are a number of other therapies currently under investigation, including gene therapy, and an injectable form of PAL. Previously, PKU-affected people were allowed to go off diet after approximately 8, then 18 years of age. However, physicians now recommend that this special diet should be followed throughout life. Gene therapy is the insertion of genes into an individuals cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one. ...


Maternal phenylketonuria

Phenylketonuria is inherited in an autosomal recessive fashion
Phenylketonuria is inherited in an autosomal recessive fashion

For women affected with PKU, it is essential for the health of their child to maintain low phenylalanine levels before and during pregnancy.[13] Though the developing fetus may only be a carrier of the PKU gene, the intrauterine environment can have very high levels of phenylalanine, which can cross the placenta. The result is that the child may develop congenital heart disease, growth retardation, microcephaly and mental retardation.[14] PKU-affected women themselves are not at risk from additional complications during pregnancy. Image File history File links No higher resolution available. ... Image File history File links No higher resolution available. ... It has been suggested that this article or section be merged into Dominance relationship. ...


In most countries, women with PKU who wish to have children are advised to lower their blood phenylalanine levels before they become pregnant and carefully control their phenylalanine levels throughout the pregnancy. This is achieved by performing regular blood tests and adhering very strictly to a diet, generally monitored on a day-to-day basis by a specialist metabolic dietitian. When low phenylalanine levels are maintained for the duration of pregnancy there are no elevated levels of risk of birth defects compared with a baby born to a non-PKU mother.[15] Babies with PKU may drink breast milk, while also taking their special metabolic formula. Some research has indicated that an exclusive diet of breast milk for PKU babies may alter the effects of the deficiency, though during breastfeeding the mother must maintain a strict diet to keep their phenylalanine levels low. More research is needed.


Incidence

The incidence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland[16] to fewer than one in 100,000 births among the population of Finland.[17] Incidence is a measure of the risk of developing some new condition within a specified period of time. ...


See also

Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ...

References

  1. ^ Folling, A. (1934). "Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet". Ztschr. Physiol. Chem. 227: 169-176. 
  2. ^ Centerwall, S. A. & Centerwall, W. R. (2000). "The discovery of phenylketonuria: the story of a young couple, two affected children, and a scientist.". Pediatrics 105 (1 Pt 1): 89-103. PMID 10617710. 
  3. ^ Mayo Clinic Staff. "Phenylketonuria (PKU)", Mayo Clinic, 2007-12-20. Retrieved on 2008-03-13. 
  4. ^ Surtees, R., Blau, N. (2000). "The neurochemistry of phenylketonuria". European Journal of Pediatrics 169: S109-13. PMID 11043156. 
  5. ^ http://www.genenames.org Phenylalanine hydroxylase (PAH) gene summary, retrieved September 8, 2006
  6. ^ Oh, H. J., Park, E. S., Kang, S., Jo, I., Jung, S. C. (2004). "Long-Term Enzymatic and Phenotypic Correction in the Phenylketonuria Mouse Model by Adeno-Associated Virus Vector-Mediated Gene Transfer". Pediatric Research 56: 278-284. doi:10.1203/01.PDR.0000132837.29067.0E. PMID 15181195. 
  7. ^ Gibbs, Richard A.; Jeffrey Rogers, Michael G. Katze, Roger Bumgarner, George M. Weinstock, Elaine R. Mardis, Karin A. Remington, et al. (April 2007). "Evolutionary and Biomedical Insights from the Rhesus Macaque Genome". Science 316 (5822): 222-234. doi:10.1126. 
  8. ^ Michals, K., Matalon, R. (1985). "Phenylalanine metabolites, attention span and hyperactivity". American JouRnal of Clinical Nutrition 42(2): 361-365. PMID 4025205. 
  9. ^ Pietz, J., Kreis, R., Rupp, A., Mayatepek, E., Rating, D., Boesch, C., Bremer, H. J. (1999). "Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria". Journal of Clinical Investigation 103: 1169–1178. doi:10.1172/JCI5017. PMID 10207169. 
  10. ^ Burton, BK; Kar S, Kirkpatrick P (2008). "Fresh from the Pipeline: Sapropterin". Nature Reviews Drug Discovery 7: 199-200. doi:10.1038/nrd2540. 
  11. ^ Michals-Matalon K (2008). "Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria". Expert Opin Investig Drugs 17 (2): 245-51. doi:10.1517/13543784.17.2.245. PMID 18230057. 
  12. ^ Pollack, A. "Agency Approves Drug to Treat Genetic Disorder That Can Lead to Retardation", The New York Times, 2007-12-14. Retrieved on 2008-04-03. 
  13. ^ Lee, P.J., Ridout, D., Walker, J.H., Cockburn, F., (2005). "Maternal phenylketonuria: report from the United Kingdom Registry 1978–97". Archives of Disease in Childhood 90: 143-146. doi:10.1136/adc.2003.037762. PMID 15665165. .
  14. ^ Rouse, B., Azen, B., Koch, R., Matalon, R., Hanley, W., de la Cruz, F., Trefz, F., Friedman, E., Shifrin, H. (1997). "Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae.". American Journal of Medical Genetics 69 (1): 89–95. doi:10.1002/(SICI)1096-8628(19970303)69:1<89::AID-AJMG17>3.0.CO;2-K. PMID 9066890. 
  15. ^ lsuhsc.edu Genetics and Louisiana Families
  16. ^ DiLella, A. G., Kwok, S. C. M., Ledley, F. D., Marvit, J., Woo, S. L. C. (1986). "Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene". Biochemistry 25: 743-749. doi:10.1021/bi00352a001. PMID 3008810. 
  17. ^ Guldberg, P., Henriksen, K. F., Sipila, I., Guttler, F., de la Chapelle, A. (1995). "Phenylketonuria in a low incidence population: molecular characterization of mutations in Finland". J. Med. Genet 32: 976-978. PMID 8825928. 

Mayo Clinic is a medical practice based in Rochester, Minnesota, USA, integrated with hospital facilities and a medical school. ... Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ... is the 354th day of the year (355th in leap years) in the Gregorian calendar. ... 2008 (MMVIII) is the current year, a leap year that started on Tuesday of the Anno Domini (or common era), in accordance with the Gregorian calendar. ... is the 72nd day of the year (73rd in leap years) in the Gregorian calendar. ... is the 251st day of the year (252nd in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... The New York Times is a daily newspaper published in New York City and distributed internationally. ... Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ... is the 348th day of the year (349th in leap years) in the Gregorian calendar. ... 2008 (MMVIII) is the current year, a leap year that started on Tuesday of the Anno Domini (or common era), in accordance with the Gregorian calendar. ... is the 93rd day of the year (94th in leap years) in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

External links

The Open Directory Project (ODP), also known as dmoz (from , its original domain name), is a multilingual open content directory of World Wide Web links owned by Netscape that is constructed and maintained by a community of volunteer editors. ... Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. ... A ketogenic amino acid is an amino acid that can be converted into ketone bodies through ketogenesis. ... Lysine is one of the 20 amino acids normally found in proteins. ... Glutaric acidemia type 2 is an genetic disorder that is characterised by defects in the bodys ability to use proteins and fats for energy. ... Hyperlysinemia is a group of hereditary disorders characterized by an abnormal increase of lysine in the blood and associated with mental retardation, convulsions, and anemia. ... Saccharopinuria (an excess of saccharopine in the urine) is a variant form of hyperlysinemia caused by a partial enzyme deficiency. ... Leucine is one of the 20 most common amino acids and coded for by DNA. It is isomeric with isoleucine. ... Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ... Isovaleric acidemia is a rare genetic disorder in which the body is unable to process certain proteins properly. ... 3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly. ... 3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency, is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. ... A glucogenic amino acid is an amino acid that can be converted into glucose through gluconeogenesis. ... Pyruvate (CH3COCOO−) is the ionized form of pyruvic acid. ... For the plant, see Glycine (plant). ... Sarcosinemia is characterized by an increased concentration of sarcosine in blood plasma and urine. ... Glutathione synthetase deficiency is a rare is a disorder that prevents the production of glutathione. ... Ketoglutaric acid is refers to either of two crystalline ketone derivatives of glutaric acid which differ only by the position of the ketone functional group. ... Glutamate is the anion of glutamic acid. ... Glutamine (abbreviated as Gln or Q; Glx or Z represents either glutamine or glutamic acid) is one of the 20 amino acids encoded by the standard genetic code. ... Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria, is a rare disorder of GABA metabolism caused by a lack of the enzyme succinic semialdehyde dehydrogenase . ... Proline is an α-amino acid with the chemical formula HO2CCH(NH[CH2)3]. L-Proline is one of the twenty DNA-encoded amino acids. ... Histidine is one of the 20 most common natural amino acids present in proteins. ... Histidinemia is a rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme histidase. ... Categories: Biochemistry stubs ... Methionine is an α-amino acid with the chemical formula HO2CCH(NH2)CH2CH2SCH3. ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Cystathioninuria is the condition of an excess of cystathionine in the urine. ... Valine is an amino acid that cannot be synthesized by humans, so it is considered an essential amino acid for human life. ... Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ... Isoleucine is an α-amino acid with the chemical formula HO2CCH(NH2)CH(CH3)CH2CH3. ... Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ... Beta-ketothiolase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid isolecine or the products of lipid breakdown. ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... A fumarate is a salt or ester of fumaric acid. ... Phenyl alanine is an α-amino acid with the formula HO2CCH(NH2)CH2C6H5. ... Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in 1846 by German chemist Justus von Liebig in the protein casein from cheese[1][2]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells... Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. ... Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine. ... Tyrosinemia (or Tyrosinaemia) is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ... What is a Urea Cycle Disorder? A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. ... Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. ... Arginine (abbreviated as Arg or R)[1] is an α-amino acid. ... Aspartic acid, also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. ... N-Acetylglutamate synthase deficiency is a urea cycle disorder. ... Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. ... Ornithine transcarbamylase deficiency (OTC), the most common of the Urea Cycle Disorders, is a rare metabolic disorder, occurring in one out of every 40000 births. ... Ornithine translocase deficiency is a rare inherited disorder that causes ammonia to accumulate in the blood. ... Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ... Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. ... Ë Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ... Hartnup disease, or Hartnups disease, or Hartnup disorder, is a genetic metabolic disorder in the absorption of the amino acid tryptophan that leads to the insufficent production of nicotinamide. ... Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets. ... Lysinuric protein intolerance (LPI), also named hyperdibasic aminoaciduria type 2 or familial protein intolerance, is an autosomal recessive disorder of diamino acid transport. ... Cystinosis is a hereditary disorder of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. ... Fanconi Syndrome (also known as Fanconis syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. ... Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in 1846 by German chemist Justus von Liebig in the protein casein from cheese[1][2]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells... Broadly, melanin is any of the polyacetylene, polyaniline, and polypyrrole blacks and browns or their mixed copolymers. ... Albino redirects here. ... Young woman with albinism from Malawi. ... Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). ... Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. ... For the plant, see Glycine (plant). ... For the use of creatine to enhance athletic performance, please see Creatine supplements. ... Trimethylamine, also known as NMe3, N(CH3)3, and TMA, is a colorless, hygroscopic, and flammable simple amine with a typical fishy odor in low concentrations and an ammonia-like odor in higher concentrations. ... Fumarase deficiency is an enzyme irregularity that causes severe mental retardation, unusual facial features, brain malformation, and epileptic seizures due to an abnormally low amount of fumarase in cells. ...

  Results from FactBites:
 
eMedicine - Phenylketonuria : Article by Georgianne L Arnold (2425 words)
Phenylketonuria (PKU) is an inborn error of protein metabolism that results from an impaired ability to metabolize the essential amino acid phenylalanine.
Some adults with untreated phenylketonuria (PKU) who are mentally retarded adults may show improvement in behavior and physical manifestations when treated with a phenylalanine-restricted diet.
Birth defects, microcephaly, and mental retardation are common in infants of mothers with phenylketonuria if the mother's phenylalanine levels are not controlled during pregnancy.
Phenylketonuria - Wikipedia, the free encyclopedia (968 words)
Phenylketonuria [PKU] is a human genetic disorder (though it is possible to exist in mice), in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine.
Phenylketonuria was discovered by the Norwegian physician Ivar Asbjørn Følling in 1934 when he noticed that hyperphenylalaninemia (HPA) was associated with mental retardation.
The problem is readily detectable within days of birth from a small blood sample -- the Guthrie heel prick test, so screening for phenylketonuria is done routinely in most industrialised countries, usually combined with testing thyroid function and other genetic disorders of metabolism.
  More results at FactBites »

 
 

COMMENTARY     


Share your thoughts, questions and commentary here
Your name
Your comments

Want to know more?
Search encyclopedia, statistics and forums:

 


Press Releases |  Feeds | Contact
The Wikipedia article included on this page is licensed under the GFDL.
Images may be subject to relevant owners' copyright.
All other elements are (c) copyright NationMaster.com 2003-5. All Rights Reserved.
Usage implies agreement with terms, 1022, m